ClinVar Miner

Submissions for variant NM_016148.5(SHANK1):c.325G>A (p.Glu109Lys)

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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 RCV003271723 SCV003973145 uncertain significance Inborn genetic diseases 2023-04-25 criteria provided, single submitter clinical testing The c.325G>A (p.E109K) alteration is located in exon 2 (coding exon 2) of the SHANK1 gene. This alteration results from a G to A substitution at nucleotide position 325, causing the glutamic acid (E) at amino acid position 109 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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