ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.3490A>G (p.Asn1164Asp) (rs868961188)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breda Genetics srl RCV001265654 SCV001443779 likely pathogenic Congenital muscular hypertrophy-cerebral syndrome 2020-10-21 criteria provided, single submitter clinical testing The variant c.3490A>G (p.Asn1164Asp) in the SMC1A gene has not been reported in gnomAD, 1000 Genomes, NHLI Exome Sequencing Project (ESP) or ClinVar. The nucleotide position is conserved across 35 mammalian species (GERP RS: 4.09). In silico analysis indicates that the variant might be damaging. Another missense variant, c.3497A>C (p.Asn1166Thr), that falls two amino acids after, is reported as pathogenic in ClinVar (Variation ID: 807691).

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