ClinVar Miner

Submissions for variant NM_015295.3(SMCHD1):c.408A>C (p.Glu136Asp)

dbSNP: rs1057519643
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000497012 SCV004296900 uncertain significance Facioscapulohumeral muscular dystrophy 2 2023-10-18 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 136 of the SMCHD1 protein (p.Glu136Asp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of SMCHD1-related conditions (PMID: 28067909). ClinVar contains an entry for this variant (Variation ID: 375764). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SMCHD1 protein function. 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.
MGH Harvard Center for Reproductive Medicine, Massachusetts General Hospital RCV000417233 SCV000328599 pathogenic Arrhinia with choanal atresia and microphthalmia syndrome no assertion criteria provided research
MGH Harvard Center for Reproductive Medicine, Massachusetts General Hospital RCV000497012 SCV000328600 pathogenic Facioscapulohumeral muscular dystrophy 2 no assertion criteria provided research
OMIM RCV000417233 SCV000503079 pathogenic Arrhinia with choanal atresia and microphthalmia syndrome 2017-02-27 no assertion criteria provided literature only

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