ClinVar Miner

Submissions for variant NM_015295.3(SMCHD1):c.5081G>C (p.Arg1694Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002942875 SCV003272924 uncertain significance Facioscapulohumeral muscular dystrophy 2 2022-03-13 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 variant has not been reported in the literature in individuals affected with SMCHD1-related conditions. This sequence change replaces arginine, which is basic and polar, with threonine, which is neutral and polar, at codon 1694 of the SMCHD1 protein (p.Arg1694Thr). This variant is not present in population databases (gnomAD no frequency).
Ambry Genetics RCV004966204 SCV005507534 uncertain significance Inborn genetic diseases 2024-08-04 criteria provided, single submitter clinical testing The c.5081G>C (p.R1694T) alteration is located in exon 41 (coding exon 41) of the SMCHD1 gene. This alteration results from a G to C substitution at nucleotide position 5081, causing the arginine (R) at amino acid position 1694 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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