ClinVar Miner

Submissions for variant NM_138964.4(PROKR1):c.1019T>A (p.Leu340Gln)

gnomAD frequency: 0.00063  dbSNP: rs144018404
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004027107 SCV003653607 uncertain significance not specified 2021-07-06 criteria provided, single submitter clinical testing The c.1019T>A (p.L340Q) alteration is located in exon 2 (coding exon 2) of the PROKR1 gene. This alteration results from a T to A substitution at nucleotide position 1019, causing the leucine (L) at amino acid position 340 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Human Genomics Unit, Institute for molecular medicine Finland (FIMM) RCV000736048 SCV000845748 likely pathogenic Hirschsprung disease no assertion criteria provided research

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