ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.15478G>A (p.Ala5160Thr)

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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 RCV002639098 SCV002978874 uncertain significance not provided 2023-01-18 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. This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 5160 of the HMCN1 protein (p.Ala5160Thr). This variant is present in population databases (rs759202617, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with HMCN1-related conditions. 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 threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function.
Ambry Genetics RCV004066644 SCV003751003 uncertain significance not specified 2021-08-16 criteria provided, single submitter clinical testing The c.15478G>A (p.A5160T) alteration is located in exon 100 (coding exon 100) of the HMCN1 gene. This alteration results from a G to A substitution at nucleotide position 15478, causing the alanine (A) at amino acid position 5160 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003455556 SCV004180630 uncertain significance Age related macular degeneration 1 2023-04-11 criteria provided, single submitter clinical testing

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