ClinVar Miner

Submissions for variant NM_014694.4(ADAMTSL2):c.2533G>A (p.Glu845Lys)

gnomAD frequency: 0.00031  dbSNP: rs199711623
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001168589 SCV001331192 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 RCV004032906 SCV004853212 uncertain significance Inborn genetic diseases 2021-09-01 criteria provided, single submitter clinical testing The c.2533G>A (p.E845K) alteration is located in exon 17 (coding exon 16) of the ADAMTSL2 gene. This alteration results from a G to A substitution at nucleotide position 2533, causing the glutamic acid (E) at amino acid position 845 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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