ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.15113T>C (p.Ile5038Thr)

gnomAD frequency: 0.00008  dbSNP: rs192561791
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000895852 SCV001039918 likely benign not provided 2025-01-06 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000895852 SCV001142925 uncertain significance not provided 2018-10-17 criteria provided, single submitter clinical testing
GeneDx RCV000895852 SCV001813565 likely benign not provided 2021-03-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002539439 SCV003590275 uncertain significance Inborn genetic diseases 2021-09-16 criteria provided, single submitter clinical testing The c.15113T>C (p.I5038T) alteration is located in exon 74 (coding exon 74) of the ADGRV1 gene. This alteration results from a T to C substitution at nucleotide position 15113, causing the isoleucine (I) at amino acid position 5038 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004551684 SCV004756894 likely benign ADGRV1-related disorder 2023-08-14 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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