ClinVar Miner

Submissions for variant NM_017934.7(PHIP):c.2786A>T (p.Glu929Val)

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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 RCV002755876 SCV003016111 benign not provided 2023-07-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002755876 SCV004011686 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing PHIP: BP4
Ambry Genetics RCV003340535 SCV004057791 likely benign Inborn genetic diseases 2023-06-26 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 RCV004736199 SCV005353761 uncertain significance PHIP-related disorder 2024-08-09 no assertion criteria provided clinical testing The PHIP c.2786A>T variant is predicted to result in the amino acid substitution p.Glu929Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.016% of alleles in individuals of European (Non-Finnish) descent in gnomAD, which may be too frequent to be a primary cause of disease. Although we suspect that this variant may be benign, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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