Is FLRT1 p.Asp171= (c.513C>T) pathogenic?

FLRT1 p.Asp171= (c.513C>T) is classified Likely benign in FLRT1 (ClinVar, Single submitter, 1 submitter; last evaluated 2020-12-10). Ultra-rare (popmax 0.0686%, nfe); Associated with peripheral neuropathy.

What condition is associated with FLRT1 p.Asp171= (c.513C>T)?

FLRT1 p.Asp171= (c.513C>T) is associated with peripheral neuropathy (ClinVar).

How common is FLRT1 p.Asp171= (c.513C>T) in the general population?

FLRT1 p.Asp171= (c.513C>T) is ultra-rare (popmax 0.0686%, nfe) (gnomAD).

FLRT1 p.Asp171=

c.513C>T · rs141684580 · VCV530942

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

ultra-rare (popmax 0.0686%, nfe)

Conditions

peripheral neuropathy

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 -7.4	GERP -3.7
Overall
CADD	7.96	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0686% European (non-Finnish) · 809/1,180,026 alleles

Filtering AF 0.0646% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.063%

Overall 0.0539% 869/1,613,594 alleles · ultra-rare exomes 811/1,461,262 · genomes 58/152,332 · joint denominator

Ancestry group	Frequency	1 in
European (non-Finnish)grpmax	0.0686%	1,459
Remaining individualsnot grpmax-eligible	0.0608%	1,645
African / African-American	0.0187%	5,362
East Asian	0.00668%	14,961
Finnishnot grpmax-eligible	0.00631%	15,856
Admixed American	0.00167%	60,028

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: FLRT1
Protein: p.Asp171=
Coding: c.513C>T
MANE Select: NM_013280
dbSNP: rs141684580
Type: single nucleotide variant
Location: chr11:64116780 (GRCh38)
Gene constraint: LOEUF 0.682 · pLI 0.14 (gnomAD)
Structure: AlphaFold pLDDT 73.46

Full FLRT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

peripheral neuropathy — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

FLRT1 p.Ala148Gly Uncertain significance ★★ same condition
FLRT1 p.Ala461Thr Uncertain significance ★★ same condition
FLRT1 p.Arg149Cys Uncertain significance ★★ same condition
FLRT1 p.Arg326Lys Uncertain significance ★★ same condition
FLRT1 p.Arg452His Uncertain significance ★★ same condition
FLRT1 p.Arg586Gln Uncertain significance ★★ same condition
FLRT1 p.Arg592Gln Uncertain significance ★★ same condition
FLRT1 p.Arg592Trp Uncertain significance ★★ 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/flrt1-p-asp171 (accessed [today's date]).

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