ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.7951G>C (p.Val2651Leu)

gnomAD frequency: 0.00001  dbSNP: rs777477439
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002298625 SCV002588318 uncertain significance not provided 2022-04-25 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Located in exon 38, which is reported as being expressed in a brain-specific transcript (Otto et al, 1991; Cunha et al, 2008; Wu et al, 2015)
Ambry Genetics RCV002420262 SCV002681138 likely benign Cardiovascular phenotype 2018-08-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Dept of Molecular Biology and Genetics, Bogazici University RCV000585778 SCV000583429 likely benign Oligosynaptic infertility; Acromesomelic dysplasia 2B no assertion criteria provided research

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