ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.1187G>A (p.Ser396Asn)

gnomAD frequency: 0.00001  dbSNP: rs772507975
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002085212 SCV002373481 likely benign Autosomal recessive polycystic kidney disease 2024-01-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003418368 SCV004117534 uncertain significance PKHD1-related disorder 2023-03-23 criteria provided, single submitter clinical testing The PKHD1 c.1187G>A variant is predicted to result in the amino acid substitution p.Ser396Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.071% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-51924772-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Ambry Genetics RCV004045708 SCV005006769 uncertain significance Inborn genetic diseases 2023-10-13 criteria provided, single submitter clinical testing The c.1187G>A (p.S396N) alteration is located in exon 15 (coding exon 14) of the PKHD1 gene. This alteration results from a G to A substitution at nucleotide position 1187, causing the serine (S) at amino acid position 396 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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