ClinVar Miner

Submissions for variant NM_014232.3(VAMP2):c.221C>T (p.Ala74Val)

dbSNP: rs1983316869
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001265983 SCV001444155 uncertain significance Inborn genetic diseases 2020-03-09 criteria provided, single submitter clinical testing The alteration results in an amino acid change:_x000D_ _x000D_ The c.221C>T (p.A74V) alteration is located in coding exon 3 of the VAMP2 gene. This alteration results from a C to T substitution at nucleotide position 221, causing the alanine (A) at amino acid position 74 to be replaced by a valine (V). The alteration is not observed in population databases: _x000D_ _x000D_ Based on data from the Genome Aggregation Database (gnomAD), the VAMP2 c.221 C>T alteration was not observed, with coverage at this position. The altered amino acid is conserved throughout evolution:_x000D_ _x000D_ The p.A74 amino acid is conserved in available vertebrate species. The alteration is predicted inconclusive by in silico modeling:_x000D_ _x000D_ The in silico prediction for the p.A74V alteration is inconclusive. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Undiagnosed Diseases Network, NIH RCV001310231 SCV001499844 uncertain significance Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 2020-04-09 criteria provided, single submitter clinical testing

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