ClinVar Miner

Submissions for variant NM_016148.5(SHANK1):c.384T>G (p.Asp128Glu)

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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 RCV004667300 SCV005171483 uncertain significance Inborn genetic diseases 2024-05-13 criteria provided, single submitter clinical testing The c.384T>G (p.D128E) alteration is located in exon 2 (coding exon 2) of the SHANK1 gene. This alteration results from a T to G substitution at nucleotide position 384, causing the aspartic acid (D) at amino acid position 128 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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