ClinVar Miner

Submissions for variant NM_005314.3(GRPR):c.242G>A (p.Ser81Asn)

gnomAD frequency: 0.00018  dbSNP: rs147393092
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001723336 SCV003605317 uncertain significance not specified 2022-12-19 criteria provided, single submitter clinical testing The c.242G>A (p.S81N) alteration is located in exon 1 (coding exon 1) of the GRPR gene. This alteration results from a G to A substitution at nucleotide position 242, causing the serine (S) at amino acid position 81 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001723336 SCV001958406 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727988 SCV001974109 likely benign not provided no assertion criteria provided clinical testing

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