ClinVar Miner

Submissions for variant NM_001145358.2(SIN3A):c.1159G>A (p.Val387Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001256119 SCV001432907 uncertain significance Autistic disorder of childhood onset; Intellectual disability 2020-02-26 criteria provided, single submitter clinical testing The c.1159G>A, p.Val387Met missense variant identified in the SIN3A gene has not been reported in affected individuals in the literature and is absent from gnomAD database indicating it is an extremely rare allele. The variant affects an evolutionarily conserved residue at the nucleotide as well as at the amino acid level. The SIN3A gene has 21 exons and this variant is located in the last codon of exon 7 near exon/intron splice junction suggesting that it may result in abnormal mRNA splicing. In Silico prediction tools show conflicting interpretations about the potential pathogenic effect of this variant. Based on the current evidence, the inherited c.1159G>A, p.Val387Met variant in the SIN3A gene is assessed as a variant of uncertain significance.

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