ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.1513T>G (p.Tyr505Asp)

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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 RCV004463682 SCV004961435 likely pathogenic Inborn genetic diseases 2023-11-01 criteria provided, single submitter clinical testing The c.1513T>G (p.Y505D) alteration is located in exon 9 (coding exon 9) of the SYNGAP1 gene. This alteration results from a T to G substitution at nucleotide position 1513, causing the tyrosine (Y) at amino acid position 505 to be replaced by an aspartic acid (D). 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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