ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.11464A>G (p.Thr3822Ala)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004090106 SCV003551268 uncertain significance not specified 2022-03-25 criteria provided, single submitter clinical testing The c.11464A>G (p.T3822A) alteration is located in exon 75 (coding exon 75) of the HMCN1 gene. This alteration results from a A to G substitution at nucleotide position 11464, causing the threonine (T) at amino acid position 3822 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003108164 SCV003782288 uncertain significance not provided 2022-04-20 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with HMCN1-related conditions. This variant is present in population databases (rs776373249, gnomAD 0.004%). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 3822 of the HMCN1 protein (p.Thr3822Ala).
Genome-Nilou Lab RCV003455751 SCV004179882 uncertain significance Age related macular degeneration 1 2023-04-11 criteria provided, single submitter clinical testing

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