ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.5927T>C (p.Ile1976Thr)

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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 RCV004087524 SCV003545213 uncertain significance not specified 2021-09-30 criteria provided, single submitter clinical testing The c.5927T>C (p.I1976T) alteration is located in exon 38 (coding exon 38) of the HMCN1 gene. This alteration results from a T to C substitution at nucleotide position 5927, causing the isoleucine (I) at amino acid position 1976 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003108161 SCV003783917 uncertain significance not provided 2022-12-25 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: "Deleterious"; PolyPhen-2: "Benign"; 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 (rs372669405, gnomAD 0.01%). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1976 of the HMCN1 protein (p.Ile1976Thr).
Genome-Nilou Lab RCV003455750 SCV004179793 uncertain significance Age related macular degeneration 1 2023-04-11 criteria provided, single submitter clinical testing

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