ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.15808T>C (p.Cys5270Arg)

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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 RCV002616503 SCV003509743 uncertain significance not provided 2024-12-19 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 5270 of the HMCN1 protein (p.Cys5270Arg). This variant is present in population databases (rs367968269, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with HMCN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2190657). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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.
Ambry Genetics RCV004070552 SCV003549259 uncertain significance not specified 2021-10-12 criteria provided, single submitter clinical testing The c.15808T>C (p.C5270R) alteration is located in exon 102 (coding exon 102) of the HMCN1 gene. This alteration results from a T to C substitution at nucleotide position 15808, causing the cysteine (C) at amino acid position 5270 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003455730 SCV004180641 uncertain significance Age related macular degeneration 1 2023-04-11 criteria provided, single submitter clinical testing

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