Is GOT1 p.His190= (c.570C>T) pathogenic?

GOT1 p.His190= (c.570C>T) is classified Likely benign in GOT1 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2019-09-09). Very rare (popmax 0.00323%, nfe); Associated with GOT1-related disorder.

What condition is associated with GOT1 p.His190= (c.570C>T)?

GOT1 p.His190= (c.570C>T) is associated with GOT1-related disorder (ClinVar).

How common is GOT1 p.His190= (c.570C>T) in the general population?

GOT1 p.His190= (c.570C>T) is very rare (popmax 0.00323%, nfe) (gnomAD).

GOT1 p.His190=

c.570C>T · rs781754659 · VCV3039802

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.00323%, nfe)

Conditions

GOT1-related disorder

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	<0.2	all four deltas below 0.2 · G>C here scores Δ0.96 · evaluated, not missing
Constraint at this position
Conservation	phyloP -3.4	GERP -5.5
Overall
CADD	0.39	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00323% European (non-Finnish) · 38/1,175,818 alleles

Filtering AF 0.0024% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0021%

Overall 0.00261% 42/1,609,472 alleles · very rare exomes 38/1,457,292 · genomes 4/152,180 · joint denominator

Ancestry group	Frequency	1 in
European (non-Finnish)grpmax	0.00323%	30,943
South Asian	0.0022%	45,502
Remaining individualsnot grpmax-eligible	0.0016%	62,338
Finnishnot grpmax-eligible	0.00156%	64,034

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: GOT1
Protein: p.His190=
Coding: c.570C>T
MANE Select: NM_002079
dbSNP: rs781754659
Type: single nucleotide variant
Location: chr10:99405828 (GRCh38)
Structure: AlphaFold pLDDT 88.17

Full GOT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

GOT1-related disorder

Similar variants

GOT1 p.Ala121= Benign same condition
GOT1 p.Arg160His Likely benign ⚠ same condition
GOT1 c.643-5C>T Benign/Likely benign ★★ same type
GOT1 p.Glu183Gly Benign ★★ ⚠ same type
GOLT1B p.Gly100Asp Uncertain significance ★ ⚠ same type
GOLT1B p.Gly132Ala Uncertain significance ★ ⚠ same type
GOLT1B p.Leu41Ile Uncertain significance ★ ⚠ same type
GOLT1B p.Lys64Asn Uncertain significance ★ ⚠ same type

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/got1-p-his190 (accessed [today's date]).

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