ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.4011T>G (p.Asp1337Glu)

gnomAD frequency: 0.00003  dbSNP: rs760893545
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001424675 SCV001627274 likely benign Autosomal recessive polycystic kidney disease 2023-12-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002555126 SCV003747613 uncertain significance Inborn genetic diseases 2021-11-15 criteria provided, single submitter clinical testing The c.4011T>G (p.D1337E) alteration is located in exon 32 (coding exon 31) of the PKHD1 gene. This alteration results from a T to G substitution at nucleotide position 4011, causing the aspartic acid (D) at amino acid position 1337 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001424675 SCV002080970 likely benign Autosomal recessive polycystic kidney disease 2019-10-10 no assertion criteria provided clinical testing

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