ClinVar Miner

Submissions for variant NM_000377.3(WAS):c.765G>C (p.Gln255His)

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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 RCV002933443 SCV003268051 benign X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 2024-01-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002952500 SCV003580061 uncertain significance Inborn genetic diseases 2021-10-20 criteria provided, single submitter clinical testing The c.765G>C (p.Q255H) alteration is located in exon 8 (coding exon 8) of the WAS gene. This alteration results from a G to C substitution at nucleotide position 765, causing the glutamine (Q) at amino acid position 255 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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