ClinVar Miner

Submissions for variant NM_016148.5(SHANK1):c.1525G>A (p.Ala509Thr)

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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 RCV002935263 SCV003658294 uncertain significance Inborn genetic diseases 2022-12-01 criteria provided, single submitter clinical testing The c.1525G>A (p.A509T) alteration is located in exon 10 (coding exon 10) of the SHANK1 gene. This alteration results from a G to A substitution at nucleotide position 1525, causing the alanine (A) at amino acid position 509 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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