ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3779C>T (p.Ala1260Val)

gnomAD frequency: 0.00001  dbSNP: rs112182862
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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) RCV000728288 SCV000855841 uncertain significance not provided 2017-07-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499344 SCV002784296 uncertain significance Polycystic kidney disease 4 2021-08-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002535066 SCV003613050 uncertain significance Inborn genetic diseases 2022-04-08 criteria provided, single submitter clinical testing The c.3779C>T (p.A1260V) alteration is located in exon 32 (coding exon 31) of the PKHD1 gene. This alteration results from a C to T substitution at nucleotide position 3779, causing the alanine (A) at amino acid position 1260 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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