ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.6250G>A (p.Val2084Met)

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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 RCV002800209 SCV003024735 uncertain significance not provided 2024-02-24 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 2084 of the HMCN1 protein (p.Val2084Met). This variant is present in population databases (rs577324065, gnomAD 0.006%). 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: 1984221). 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 RCV004064688 SCV003745528 uncertain significance not specified 2022-07-29 criteria provided, single submitter clinical testing The c.6250G>A (p.V2084M) alteration is located in exon 40 (coding exon 40) of the HMCN1 gene. This alteration results from a G to A substitution at nucleotide position 6250, causing the valine (V) at amino acid position 2084 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003455572 SCV004179798 uncertain significance Age related macular degeneration 1 2023-04-11 criteria provided, single submitter clinical testing

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