ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.10403C>G (p.Ala3468Gly)

dbSNP: rs201041141
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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 RCV001898958 SCV002168380 uncertain significance not provided 2022-08-07 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 3468 of the HMCN1 protein (p.Ala3468Gly). This variant is present in population databases (rs201041141, gnomAD 0.04%). 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: 1404200). 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. 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 RCV004042609 SCV003682123 uncertain significance not specified 2021-07-20 criteria provided, single submitter clinical testing The c.10403C>G (p.A3468G) alteration is located in exon 68 (coding exon 68) of the HMCN1 gene. This alteration results from a C to G substitution at nucleotide position 10403, causing the alanine (A) at amino acid position 3468 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003452122 SCV004179869 uncertain significance Age related macular degeneration 1 2023-04-11 criteria provided, single submitter clinical testing

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