ClinVar Miner

Submissions for variant NM_001004334.4(GPR179):c.349G>A (p.Asp117Asn)

gnomAD frequency: 0.00002  dbSNP: rs776996552
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000171255 SCV003443074 uncertain significance not provided 2022-05-04 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 117 of the GPR179 protein (p.Asp117Asn). This variant is present in population databases (rs776996552, gnomAD 0.007%). This missense change has been observed in individual(s) with clinical features of GPR179-related conditions (PMID: 26355662). ClinVar contains an entry for this variant (Variation ID: 191075). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989479 SCV004807731 uncertain significance Congenital stationary night blindness 1E 2024-03-29 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000171255 SCV000221452 likely pathogenic not provided flagged submission research

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