ClinVar Miner

Submissions for variant NM_005460.4(SNCAIP):c.261G>T (p.Glu87Asp)

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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 RCV004314407 SCV003967713 uncertain significance not specified 2023-05-03 criteria provided, single submitter clinical testing The c.261G>T (p.E87D) alteration is located in exon 4 (coding exon 3) of the SNCAIP gene. This alteration results from a G to T substitution at nucleotide position 261, causing the glutamic acid (E) at amino acid position 87 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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