ClinVar Miner

Submissions for variant NM_004517.4(ILK):c.707A>G (p.Asn236Ser)

gnomAD frequency: 0.00018  dbSNP: rs145571020
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000757407 SCV000618115 uncertain significance not provided 2021-05-20 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 has a deleterious effect on protein structure/function; Reported in ClinVar as a likely benign variant (ClinVar Variant ID# 449745; Landrum et al., 2016)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757407 SCV000885615 likely benign not provided 2017-12-13 criteria provided, single submitter clinical testing The p.Asn236Ser variant (rs145571020) has not been reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the Genome Aggregation Database (gnomAD) with a frequency of 0.3 percent in the East Asian population (identified on 55 out of 18,868 chromosomes). The asparagine at position 236 is highly conserved up to zebrafish considering 13 species (Alamut v2.10) and computational analyses of the effects of the p.Asn236Ser variant on protein structure and function provide conflicting results (SIFT: tolerated, MutationTaster: disease causing, PolyPhen-2:benign). Given the overabundance of the p.Asn236Ser variant in the general population, it is considered likely benign.
Invitae RCV001084716 SCV001004058 likely benign Primary familial hypertrophic cardiomyopathy 2024-01-22 criteria provided, single submitter clinical testing

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