ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.15043A>G (p.Thr5015Ala)

dbSNP: rs767233028
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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 RCV001946454 SCV002214481 uncertain significance not provided 2024-10-15 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 5015 of the HMCN1 protein (p.Thr5015Ala). This variant is present in population databases (rs767233028, gnomAD 0.0009%). 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: 1436821). 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 RCV004042963 SCV003674646 uncertain significance not specified 2022-12-15 criteria provided, single submitter clinical testing The c.15043A>G (p.T5015A) alteration is located in exon 97 (coding exon 97) of the HMCN1 gene. This alteration results from a A to G substitution at nucleotide position 15043, causing the threonine (T) at amino acid position 5015 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003453810 SCV004180616 uncertain significance Age related macular degeneration 1 2023-04-11 criteria provided, single submitter clinical testing

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