ClinVar Miner

Submissions for variant NM_005460.4(SNCAIP):c.382G>A (p.Gly128Ser)

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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 RCV004347114 SCV004067966 uncertain significance not specified 2023-07-17 criteria provided, single submitter clinical testing The c.382G>A (p.G128S) alteration is located in exon 4 (coding exon 3) of the SNCAIP gene. This alteration results from a G to A substitution at nucleotide position 382, causing the glycine (G) at amino acid position 128 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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