ClinVar Miner

Submissions for variant NM_001201543.2(FAM161A):c.1328C>T (p.Ser443Leu)

gnomAD frequency: 0.00001  dbSNP: rs189711603
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002535 SCV001160498 uncertain significance Retinitis pigmentosa 28 2019-05-05 criteria provided, single submitter clinical testing The FAM161A c.1328C>T; p.Ser443Leu variant (rs189711603), to our knowledge, is not reported in the medical literature or gene-specific databases. The variant is reported in the Latino population with an allele frequency of 0.02% (7/34524 alleles) in the Genome Aggregation Database. The amino acid at this position is moderately conserved and computational algorithms (PolyPhen-2, SIFT) predict this variant is tolerated. Although most pathogenic FAM161A variants are truncating (Bandah-Rozenfeld 2010), due to limited information, the clinical significance of this variant is uncertain. References: Bandah-Rozenfeld D et al. Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa. Am J Hum Genet. 2010 Sep 10;87(3):382-91.
Labcorp Genetics (formerly Invitae), Labcorp RCV002549181 SCV003495635 uncertain significance not provided 2022-09-24 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 443 of the FAM161A protein (p.Ser443Leu). This variant is present in population databases (rs189711603, gnomAD 0.03%). 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: 811992). 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. RCV001271394 SCV001452511 uncertain significance Retinitis pigmentosa 2020-09-16 no assertion criteria provided clinical testing

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