ClinVar Miner

Submissions for variant NM_006214.4(PHYH):c.1010_1012dup (p.Asn337_Leu338insHis)

gnomAD frequency: 0.00167  dbSNP: rs566116760
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000513200 SCV000608536 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing PHYH: BS2
Labcorp Genetics (formerly Invitae), Labcorp RCV000513200 SCV001110661 likely benign not provided 2025-01-13 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000513200 SCV001713529 uncertain significance not provided 2022-01-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004525953 SCV005040497 uncertain significance not specified 2024-03-01 criteria provided, single submitter clinical testing Variant summary: PHYH c.1010_1012dupATC (p.Asn337_Leu338insHis) results in an in-frame insertion that is predicted to insert 1 amino acid into the encoded protein. The variant allele was found at a frequency of 0.002 in 251408 control chromosomes in the gnomAD database, including 1 homozygote. c.1010_1012dupATC has been reported in the literature in individuals affected with retinal disease or nonsyndromic cleft lip and palate without strong evidence of causality (Watson_2014, Aylward_2016, Dieriro_2020). These reports do not provide unequivocal conclusions about association of the variant with Phytanic Acid Storage Disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 25133751, 27229527, 32483926). ClinVar contains an entry for this variant (Variation ID: 444210). Based on the evidence outlined above, the variant was classified as uncertain significance.
University of Washington Center for Mendelian Genomics, University of Washington RCV000755124 SCV000882946 likely pathogenic Nonsyndromic cleft lip palate 2016-03-27 no assertion criteria provided research
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004817741 SCV005069380 uncertain significance Optic atrophy 2023-01-01 no assertion criteria provided clinical testing

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