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: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae 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.

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