ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.503T>C (p.Val168Ala)

dbSNP: rs773142808
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002542954 SCV003575401 uncertain significance Inborn genetic diseases 2021-08-23 criteria provided, single submitter clinical testing The c.503T>C (p.V168A) alteration is located in exon 5 (coding exon 5) of the PSAP gene. This alteration results from a T to C substitution at nucleotide position 503, causing the valine (V) at amino acid position 168 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001280279 SCV001467444 uncertain significance Metachromatic leukodystrophy 2020-04-11 no assertion criteria provided clinical testing

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