ClinVar Miner

Submissions for variant NM_017934.7(PHIP):c.3541G>T (p.Ala1181Ser)

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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 RCV002750062 SCV003018515 benign not provided 2023-12-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004534183 SCV004749124 uncertain significance PHIP-related disorder 2024-09-24 no assertion criteria provided clinical testing The PHIP c.3541G>T variant is predicted to result in the amino acid substitution p.Ala1181Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.041% of alleles in individuals of South Asian descent in gnomAD. 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.

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