ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.3203G>A (p.Arg1068Lys)

gnomAD frequency: 0.00006  dbSNP: rs202151375
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001218072 SCV001389939 likely benign not provided 2024-01-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002535436 SCV003679978 uncertain significance Inborn genetic diseases 2022-06-21 criteria provided, single submitter clinical testing The c.3203G>A (p.R1068K) alteration is located in exon 17 (coding exon 17) of the ADGRV1 gene. This alteration results from a G to A substitution at nucleotide position 3203, causing the arginine (R) at amino acid position 1068 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000735734 SCV000863887 uncertain significance Usher syndrome type 2C 2018-05-22 no assertion criteria provided clinical testing

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