ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.10168C>T (p.Arg3390Trp)

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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 RCV002962606 SCV003285195 uncertain significance not provided 2023-12-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 3390 of the HMCN1 protein (p.Arg3390Trp). This variant is present in population databases (rs544012411, 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: 2072048). 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 RCV004068295 SCV003870907 uncertain significance not specified 2023-01-23 criteria provided, single submitter clinical testing The c.10168C>T (p.R3390W) alteration is located in exon 66 (coding exon 66) of the HMCN1 gene. This alteration results from a C to T substitution at nucleotide position 10168, causing the arginine (R) at amino acid position 3390 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003455638 SCV004179867 uncertain significance Age related macular degeneration 1 2023-04-11 criteria provided, single submitter clinical testing

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