ClinVar Miner

Submissions for variant NM_005460.4(SNCAIP):c.272A>G (p.Asn91Ser)

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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 RCV004107022 SCV003581272 uncertain significance not specified 2021-09-14 criteria provided, single submitter clinical testing The c.272A>G (p.N91S) alteration is located in exon 4 (coding exon 3) of the SNCAIP gene. This alteration results from a A to G substitution at nucleotide position 272, causing the asparagine (N) at amino acid position 91 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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