ClinVar Miner

Submissions for variant NM_001201543.2(FAM161A):c.1907G>A (p.Gly636Glu)

gnomAD frequency: 0.00001  dbSNP: rs188276373
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001349279 SCV001543614 uncertain significance not provided 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 636 of the FAM161A protein (p.Gly636Glu). This variant is present in population databases (rs188276373, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with FAM161A-related conditions. ClinVar contains an entry for this variant (Variation ID: 1044948). 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.
Natera, Inc. RCV001836347 SCV002076588 uncertain significance Retinitis pigmentosa 28 2020-03-04 no assertion criteria provided clinical testing

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