ClinVar Miner

Submissions for variant NM_019032.6(ADAMTSL4):c.1936G>A (p.Val646Met)

gnomAD frequency: 0.00001  dbSNP: rs765795619
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000785000 SCV000923550 uncertain significance Ectopia lentis 2, isolated, autosomal recessive 2019-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001856204 SCV002199427 uncertain significance not provided 2022-07-05 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 646 of the ADAMTSL4 protein (p.Val646Met). This variant is present in population databases (rs765795619, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with ADAMTSL4-related conditions. ClinVar contains an entry for this variant (Variation ID: 634507). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). 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 RCV003307418 SCV003995077 uncertain significance Inborn genetic diseases 2023-06-02 criteria provided, single submitter clinical testing The c.1936G>A (p.V646M) alteration is located in exon 12 (coding exon 10) of the ADAMTSL4 gene. This alteration results from a G to A substitution at nucleotide position 1936, causing the valine (V) at amino acid position 646 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003338791 SCV004049568 uncertain significance Ectopia lentis et pupillae 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000785000 SCV004049569 uncertain significance Ectopia lentis 2, isolated, autosomal recessive 2023-04-11 criteria provided, single submitter clinical testing

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