ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.1004T>A (p.Val335Asp)

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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 RCV003015416 SCV003305482 uncertain significance not provided 2022-11-22 criteria provided, single submitter clinical testing This variant is present in population databases (rs138572318, gnomAD 0.006%). This sequence change replaces valine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 335 of the HMCN1 protein (p.Val335Asp). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0").
Ambry Genetics RCV004068499 SCV003724145 uncertain significance not specified 2022-01-26 criteria provided, single submitter clinical testing The c.1004T>A (p.V335D) alteration is located in exon 7 (coding exon 7) of the HMCN1 gene. This alteration results from a T to A substitution at nucleotide position 1004, causing the valine (V) at amino acid position 335 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003455655 SCV004179728 uncertain significance Age related macular degeneration 1 2023-04-11 criteria provided, single submitter clinical testing

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