ClinVar Miner

Submissions for variant NM_015295.3(SMCHD1):c.1034A>G (p.Gln345Arg)

dbSNP: rs1057519639
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002521501 SCV003442528 uncertain significance Facioscapulohumeral muscular dystrophy 2 2022-06-12 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 345 of the SMCHD1 protein (p.Gln345Arg). This variant is not present in population databases (gnomAD no frequency). 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. Experimental studies have shown that this missense change does not substantially affect SMCHD1 function (PMID: 31312724). 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: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 375760). This missense change has been observed in individual(s) with autosomal dominant Bosma arhinia microphthalmia syndrome (PMID: 28067909). It has also been observed to segregate with disease in related individuals.
MGH Harvard Center for Reproductive Medicine, Massachusetts General Hospital RCV000417316 SCV000328608 pathogenic Arrhinia with choanal atresia and microphthalmia syndrome no assertion criteria provided research
MGH Harvard Center for Reproductive Medicine, Massachusetts General Hospital RCV000497013 SCV000328609 pathogenic Anosmia no assertion criteria provided research
OMIM RCV000417316 SCV000503075 pathogenic Arrhinia with choanal atresia and microphthalmia syndrome 2017-02-27 no assertion criteria provided literature only

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