ClinVar Miner

Submissions for variant NM_017654.4(SAMD9):c.2030C>T (p.Ala677Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004962706 SCV005496105 uncertain significance Inborn genetic diseases 2024-12-04 criteria provided, single submitter clinical testing The p.A677V variant (also known as c.2030C>T), located in coding exon 1 of the SAMD9 gene, results from a C to T substitution at nucleotide position 2030. The alanine at codon 677 is replaced by valine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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