ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.8876A>G (p.Asn2959Ser)

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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 RCV002988719 SCV003291895 uncertain significance not provided 2023-08-22 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with HMCN1-related conditions. 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. 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. ClinVar contains an entry for this variant (Variation ID: 2078600). This variant is present in population databases (rs778469245, gnomAD 0.07%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 2959 of the HMCN1 protein (p.Asn2959Ser).
Ambry Genetics RCV004065198 SCV003651059 uncertain significance not specified 2022-03-29 criteria provided, single submitter clinical testing The c.8876A>G (p.N2959S) alteration is located in exon 57 (coding exon 57) of the HMCN1 gene. This alteration results from a A to G substitution at nucleotide position 8876, causing the asparagine (N) at amino acid position 2959 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003455647 SCV004179848 uncertain significance Age related macular degeneration 1 2023-04-11 criteria provided, single submitter clinical testing

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