ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.4715G>A (p.Arg1572Gln)

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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 RCV002938503 SCV003266485 uncertain significance not provided 2024-08-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1572 of the HMCN1 protein (p.Arg1572Gln). This variant is present in population databases (rs144433637, 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: 2056329). 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 RCV004067102 SCV004003845 uncertain significance not specified 2023-06-01 criteria provided, single submitter clinical testing The c.4715G>A (p.R1572Q) alteration is located in exon 31 (coding exon 31) of the HMCN1 gene. This alteration results from a G to A substitution at nucleotide position 4715, causing the arginine (R) at amino acid position 1572 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003456300 SCV004179772 uncertain significance Age related macular degeneration 1 2023-04-11 criteria provided, single submitter clinical testing

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