ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.10252G>A (p.Ala3418Thr)

gnomAD frequency: 0.00006  dbSNP: rs776589273
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729075 SCV000856711 uncertain significance not provided 2017-09-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507288 SCV002814409 uncertain significance Polycystic kidney disease 4 2021-08-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002533098 SCV003746940 uncertain significance Inborn genetic diseases 2022-12-06 criteria provided, single submitter clinical testing The c.10252G>A (p.A3418T) alteration is located in exon 61 (coding exon 60) of the PKHD1 gene. This alteration results from a G to A substitution at nucleotide position 10252, causing the alanine (A) at amino acid position 3418 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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