ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.15941T>C (p.Met5314Thr)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002770693 SCV003025653 uncertain significance not provided 2022-11-17 criteria provided, single submitter clinical testing 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. 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 tolerated. This variant has not been reported in the literature in individuals affected with HMCN1-related conditions. This variant is present in population databases (rs145955604, gnomAD 0.006%). This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 5314 of the HMCN1 protein (p.Met5314Thr).
Ambry Genetics RCV004064742 SCV003594904 uncertain significance not specified 2021-11-08 criteria provided, single submitter clinical testing The c.15941T>C (p.M5314T) alteration is located in exon 103 (coding exon 103) of the HMCN1 gene. This alteration results from a T to C substitution at nucleotide position 15941, causing the methionine (M) at amino acid position 5314 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003456297 SCV004180644 uncertain significance Age related macular degeneration 1 2023-04-11 criteria provided, single submitter clinical testing

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