ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.1143G>C (p.Lys381Asn)

gnomAD frequency: 0.00001  dbSNP: rs949199630
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002480921 SCV002790849 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2022-02-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002542956 SCV003714902 uncertain significance Inborn genetic diseases 2022-06-21 criteria provided, single submitter clinical testing The c.1143G>C (p.K381N) alteration is located in exon 10 (coding exon 9) of the RPGRIP1L gene. This alteration results from a G to C substitution at nucleotide position 1143, causing the lysine (K) at amino acid position 381 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001280354 SCV001467530 uncertain significance Familial aplasia of the vermis 2020-04-24 no assertion criteria provided clinical testing

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