ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.12008T>C (p.Ile4003Thr)

gnomAD frequency: 0.00004  dbSNP: rs376911431
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000305262 SCV000343603 uncertain significance not provided 2016-07-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000305262 SCV001381305 uncertain significance not provided 2024-04-05 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 4003 of the ADGRV1 protein (p.Ile4003Thr). This variant is present in population databases (rs376911431, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with ADGRV1-related conditions. ClinVar contains an entry for this variant (Variation ID: 289270). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ADGRV1 protein function with a negative predictive value of 80%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002494884 SCV002784528 uncertain significance Usher syndrome type 2C; Febrile seizures, familial, 4 2021-09-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002519320 SCV003744357 uncertain significance Inborn genetic diseases 2022-07-27 criteria provided, single submitter clinical testing The c.12008T>C (p.I4003T) alteration is located in exon 58 (coding exon 58) of the ADGRV1 gene. This alteration results from a T to C substitution at nucleotide position 12008, causing the isoleucine (I) at amino acid position 4003 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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