Is MERTK p.Ser972= (c.2916G>A) pathogenic?

MERTK p.Ser972= (c.2916G>A) is classified Benign in MERTK (ClinVar, Multiple submitters, 6 submitters; last evaluated 2026-02-02). Common (popmax 10.8%, afr) — too common for a highly-penetrant pathogenic allele; Associated with retinitis pigmentosa.

What condition is associated with MERTK p.Ser972= (c.2916G>A)?

MERTK p.Ser972= (c.2916G>A) is associated with retinitis pigmentosa, retinitis pigmentosa 38, inherited retinal dystrophy (ClinVar).

How is Retinitis pigmentosa inherited?

Typically Autosomal dominant, Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

MERTK p.Ser972=

Q: How common is MERTK p.Ser972= (c.2916G>A) in the general population?

MERTK p.Ser972= (c.2916G>A) is common (popmax 10.8%, afr) — too common for a highly-penetrant pathogenic allele (gnomAD).

c.2916G>A · rs10205793 · VCV167290

Benign Multiple submitters

Classification

Benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 6 submitters

gnomAD v4.1

Common

common (popmax 10.8%, afr) — too common for a highly-penetrant pathogenic allele

Conditions

retinitis pigmentosa

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -2.6	GERP -3.5
Overall
CADD	0.406	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 10.8% African / African-American · 8,131/74,952 alleles

Filtering AF 10.7% ClinGen BA1/BS1 input FAF95, joint · FAF99 10.6%

Overall 3.76% 60,764/1,613,998 alleles · common exomes 52,115/1,461,848 · genomes 8,649/152,150 · joint denominator

Ancestry group	Frequency	1 in
African / African-Americangrpmax	10.8%	9
Finnishnot grpmax-eligible	6.6%	15
Amishnot grpmax-eligible	5.93%	17
Remaining individualsnot grpmax-eligible	3.54%	28
Ashkenazi Jewishnot grpmax-eligible	3.47%	29
European (non-Finnish)	3.46%	29
Admixed American	3.37%	30
South Asian	2.2%	45
Middle Eastern	1.85%	54
East Asian	0.223%	449

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: MERTK
Protein: p.Ser972=
Coding: c.2916G>A
MANE Select: NM_006343
dbSNP: rs10205793
Type: single nucleotide variant
Location: chr2:112028780 (GRCh38)
Gene constraint: LOEUF 0.787 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 72.78 · 42 PDB

Full MERTK gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

retinitis pigmentosa — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: retinitis pigmentosa 38 inherited retinal dystrophy

For Retinitis pigmentosa (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive, Mitochondrial inheritance
Onset: Adolescent, Adult, Childhood
Prevalence: 1-5 / 10 000 (Europe)

Similar variants

MERTK c.1296+1G>A Pathogenic/Likely pathogenic ★★ same condition
MERTK c.1605-2A>G Pathogenic ★★ same condition
MERTK c.1867+1G>A Likely pathogenic ★★ same condition
MERTK c.1868-1G>A Pathogenic ★★ same condition
MERTK c.2189+1G>T Pathogenic ★★ same condition
MERTK p.Ala768Thr Pathogenic/Likely pathogenic ★★ same condition
MERTK p.Ala768Val Likely pathogenic ★★ same condition
MERTK p.Arg651Ter Pathogenic ★★ same condition

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/mertk-p-ser972 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown