ClinVar Miner

Submissions for variant NM_005445.4(SMC3):c.381C>G (p.Ser127Arg)

dbSNP: rs748876063
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000857247 SCV000999835 likely pathogenic De Lange syndrome 2019-03-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV003372893 SCV004085711 likely pathogenic Inborn genetic diseases 2023-08-14 criteria provided, single submitter clinical testing The c.381C>G (p.S127R) alteration is located in exon 7 (coding exon 7) of the SMC3 gene. This alteration results from a C to G substitution at nucleotide position 381, causing the serine (S) at amino acid position 127 to be replaced by an arginine (R). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is highly conserved in available vertebrate species. This missense alteration is located in a region that has a low rate of benign missense variation (Lek, 2016; Firth, 2009). The in silico prediction for this alteration is inconclusive. Based on the available evidence, this alteration is classified as likely pathogenic.

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