ClinVar Miner

Submissions for variant NM_015073.3(SIPA1L3):c.4196C>T (p.Pro1399Leu)

gnomAD frequency: 0.00007  dbSNP: rs561664381
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000923450 SCV001068927 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004857741 SCV005501500 uncertain significance not specified 2024-06-26 criteria provided, single submitter clinical testing The c.4196C>T (p.P1399L) alteration is located in exon 15 (coding exon 13) of the SIPA1L3 gene. This alteration results from a C to T substitution at nucleotide position 4196, causing the proline (P) at amino acid position 1399 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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