ClinVar Miner

Submissions for variant NM_014694.4(ADAMTSL2):c.1213G>A (p.Glu405Lys)

gnomAD frequency: 0.00002  dbSNP: rs983037163
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001166303 SCV001328670 uncertain significance Geleophysic dysplasia 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Ambry Genetics RCV002558623 SCV003724135 uncertain significance Inborn genetic diseases 2022-06-10 criteria provided, single submitter clinical testing The c.1213G>A (p.E405K) alteration is located in exon 10 (coding exon 9) of the ADAMTSL2 gene. This alteration results from a G to A substitution at nucleotide position 1213, causing the glutamic acid (E) at amino acid position 405 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003490095 SCV004242046 uncertain significance not specified 2023-12-08 criteria provided, single submitter clinical testing Variant summary: ADAMTSL2 c.1213G>A (p.Glu405Lys) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 4.4e-05 in 1542486 control chromosomes. This frequency does not allow for any conclusion about variant significance. To our knowledge, no occurrence of c.1213G>A in individuals affected with Geleophysic Dysplasia and no experimental evidence demonstrating its impact on protein function have been reported. Two submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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