ClinVar Miner

Submissions for variant NM_004560.4(ROR2):c.37C>G (p.Leu13Val)

gnomAD frequency: 0.00006  dbSNP: rs1053014086
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730048 SCV000857756 uncertain significance not provided 2017-11-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493319 SCV002777070 uncertain significance Brachydactyly type B1; Autosomal recessive Robinow syndrome 2022-02-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000730048 SCV005812303 uncertain significance not provided 2024-07-30 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 13 of the ROR2 protein (p.Leu13Val). This variant is present in population databases (no rsID available, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with ROR2-related conditions. ClinVar contains an entry for this variant (Variation ID: 594697). 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 ROR2 protein function with a negative predictive value of 95%. 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.
Ambry Genetics RCV005268740 SCV005935092 uncertain significance Inborn genetic diseases 2024-12-11 criteria provided, single submitter clinical testing The c.37C>G (p.L13V) alteration is located in exon 1 (coding exon 1) of the ROR2 gene. This alteration results from a C to G substitution at nucleotide position 37, causing the leucine (L) at amino acid position 13 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004540048 SCV004776978 uncertain significance ROR2-related disorder 2023-12-14 no assertion criteria provided clinical testing The ROR2 c.37C>G variant is predicted to result in the amino acid substitution p.Leu13Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.026% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-94712209-G-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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