ClinVar Miner

Submissions for variant NM_001201543.2(FAM161A):c.1821G>C (p.Lys607Asn)

gnomAD frequency: 0.00001  dbSNP: rs777678039
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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 RCV001240089 SCV001413012 uncertain significance not provided 2022-08-15 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 607 of the FAM161A protein (p.Lys607Asn). This variant is present in population databases (rs777678039, 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: 965597). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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. RCV001279499 SCV001466596 uncertain significance Retinitis pigmentosa 28 2020-08-21 no assertion criteria provided clinical testing

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