ClinVar Miner

Submissions for variant NM_003901.4(SGPL1):c.514C>T (p.Pro172Ser)

dbSNP: rs776063375
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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 RCV003281551 SCV003971586 uncertain significance Inborn genetic diseases 2023-04-12 criteria provided, single submitter clinical testing The c.514C>T (p.P172S) alteration is located in exon 7 (coding exon 6) of the SGPL1 gene. This alteration results from a C to T substitution at nucleotide position 514, causing the proline (P) at amino acid position 172 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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