ClinVar Miner

Submissions for variant NM_001201543.2(FAM161A):c.721C>A (p.Pro241Thr)

dbSNP: rs531709417
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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 RCV001208663 SCV001380066 uncertain significance not provided 2022-03-10 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 241 of the FAM161A protein (p.Pro241Thr). This variant is present in population databases (rs531709417, gnomAD 0.05%). 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: 939287). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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. RCV001828671 SCV002076622 uncertain significance Retinitis pigmentosa 28 2021-08-02 no assertion criteria provided clinical testing

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