ClinVar Miner

Submissions for variant NM_001201543.2(FAM161A):c.1357G>C (p.Val453Leu)

gnomAD frequency: 0.00004  dbSNP: rs973178862
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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 RCV001047056 SCV001210989 uncertain significance not provided 2022-10-05 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 453 of the FAM161A protein (p.Val453Leu). This variant is present in population databases (no rsID available, gnomAD 0.07%). 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: 844250). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FAM161A protein function. 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. RCV001274719 SCV001459099 uncertain significance Retinitis pigmentosa 2020-05-02 no assertion criteria provided clinical testing

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