ClinVar Miner

Submissions for variant NM_000377.3(WAS):c.1156C>T (p.Pro386Ser)

gnomAD frequency: 0.00001  dbSNP: rs895243178
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001323433 SCV001514346 uncertain significance X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 2021-08-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001323433 SCV002797158 uncertain significance X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 2021-07-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002546103 SCV003660037 uncertain significance Inborn genetic diseases 2022-11-21 criteria provided, single submitter clinical testing The c.1156C>T (p.P386S) alteration is located in exon 10 (coding exon 10) of the WAS gene. This alteration results from a C to T substitution at nucleotide position 1156, causing the proline (P) at amino acid position 386 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004692503 SCV005192413 uncertain significance not provided criteria provided, single submitter not provided

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