ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.16280A>G (p.His5427Arg)

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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 RCV003104520 SCV003780991 uncertain significance not provided 2022-04-16 criteria provided, single submitter clinical testing 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with HMCN1-related conditions. This variant is present in population databases (rs751058515, gnomAD 0.1%). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 5427 of the HMCN1 protein (p.His5427Arg).
Ambry Genetics RCV004244504 SCV004077061 uncertain significance not specified 2023-06-16 criteria provided, single submitter clinical testing The c.16280A>G (p.H5427R) alteration is located in exon 104 (coding exon 104) of the HMCN1 gene. This alteration results from a A to G substitution at nucleotide position 16280, causing the histidine (H) at amino acid position 5427 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003455758 SCV004180647 uncertain significance Age related macular degeneration 1 2023-04-11 criteria provided, single submitter clinical testing

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