Submissions for variant NM_017934.7(PHIP):c.5180C>T (p.Ala1727Val)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003546322	SCV004275165	likely benign	not provided	2024-04-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004953312	SCV005473056	likely benign	Inborn genetic diseases	2024-12-10	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences	RCV004736349	SCV005364839	uncertain significance	PHIP-related disorder	2024-08-20	no assertion criteria provided	clinical testing	The PHIP c.5180C>T variant is predicted to result in the amino acid substitution p.Ala1727Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.024% of alleles in individuals of African descent in gnomAD, which is likely too frequent to be an undocumented pathogenic variant. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.