ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.15691G>A (p.Val5231Met)

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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 RCV002614775 SCV002964239 uncertain significance not provided 2022-09-20 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. 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 5231 of the HMCN1 protein (p.Val5231Met).
Ambry Genetics RCV004065909 SCV003892764 uncertain significance not specified 2023-01-20 criteria provided, single submitter clinical testing The c.15691G>A (p.V5231M) alteration is located in exon 102 (coding exon 102) of the HMCN1 gene. This alteration results from a G to A substitution at nucleotide position 15691, causing the valine (V) at amino acid position 5231 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003455552 SCV004180637 uncertain significance Age related macular degeneration 1 2023-04-11 criteria provided, single submitter clinical testing

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