ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.2656G>A (p.Gly886Arg)

gnomAD frequency: 0.00001  dbSNP: rs368702685
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001357861 SCV002115678 uncertain significance not provided 2024-04-18 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 886 of the HMCN1 protein (p.Gly886Arg). This variant is present in population databases (rs368702685, gnomAD 0.006%). 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: 1050432). 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 RCV004034489 SCV003708368 uncertain significance not specified 2022-12-14 criteria provided, single submitter clinical testing The c.2656G>A (p.G886R) alteration is located in exon 17 (coding exon 17) of the HMCN1 gene. This alteration results from a G to A substitution at nucleotide position 2656, causing the glycine (G) at amino acid position 886 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003450004 SCV004179743 uncertain significance Age related macular degeneration 1 2023-04-11 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001357861 SCV001553451 uncertain significance not provided no assertion criteria provided clinical testing

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