ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.9491C>T (p.Thr3164Met)

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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 RCV002597493 SCV002954457 uncertain significance not provided 2024-11-08 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 3164 of the HMCN1 protein (p.Thr3164Met). This variant is present in population databases (rs141412992, gnomAD 0.04%), and has an allele count higher than expected for a pathogenic variant. 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: 1914359). 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 RCV004065623 SCV003713660 uncertain significance not specified 2022-06-17 criteria provided, single submitter clinical testing The c.9491C>T (p.T3164M) alteration is located in exon 62 (coding exon 62) of the HMCN1 gene. This alteration results from a C to T substitution at nucleotide position 9491, causing the threonine (T) at amino acid position 3164 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003456293 SCV004179857 uncertain significance Age related macular degeneration 1 2023-04-11 criteria provided, single submitter clinical testing

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