ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.2284G>A (p.Val762Met)

gnomAD frequency: 0.00004  dbSNP: rs146338880
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002533597 SCV000829447 uncertain significance not provided 2022-07-12 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 762 of the IKBKAP protein (p.Val762Met). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with IKBKAP-related conditions. ClinVar contains an entry for this variant (Variation ID: 577835). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV004026522 SCV002755214 uncertain significance not specified 2022-08-16 criteria provided, single submitter clinical testing The p.V762M variant (also known as c.2284G>A) is located in coding exon 21 of the IKBKAP gene. The valine at codon 762 is replaced by methionine, an amino acid with highly similar properties. This change occurs in the first base pair of coding exon 21. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002493223 SCV002786870 uncertain significance Medulloblastoma; Familial dysautonomia 2021-09-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV000700681 SCV001462226 uncertain significance Familial dysautonomia 2020-01-17 no assertion criteria provided clinical testing

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