ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.2275G>A (p.Ala759Thr)

gnomAD frequency: 0.00001  dbSNP: rs550730673
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002127545 SCV002418841 likely benign Autosomal recessive polycystic kidney disease 2023-12-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003408133 SCV004113282 uncertain significance PKHD1-related disorder 2022-11-14 criteria provided, single submitter clinical testing The PKHD1 c.2275G>A variant is predicted to result in the amino acid substitution p.Ala759Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.069% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-51914959-C-T). 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.
Fulgent Genetics, Fulgent Genetics RCV005042731 SCV005671486 uncertain significance Polycystic kidney disease 4 2024-03-14 criteria provided, single submitter clinical testing

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