ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.2920G>A (p.Ala974Thr)

gnomAD frequency: 0.00012  dbSNP: rs151120244
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004035443 SCV002755980 uncertain significance not specified 2023-09-06 criteria provided, single submitter clinical testing The p.A974T variant (also known as c.2920G>A), located in coding exon 26 of the IKBKAP gene, results from a G to A substitution at nucleotide position 2920. The alanine at codon 974 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002493464 SCV002782961 uncertain significance Medulloblastoma; Familial dysautonomia 2022-04-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002542867 SCV003007665 uncertain significance not provided 2022-08-02 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 974 of the ELP1 protein (p.Ala974Thr). This variant is present in population databases (rs151120244, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with ELP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 989525). 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: "Deleterious"; PolyPhen-2: "Possibly 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.
Natera, Inc. RCV001277377 SCV001464325 uncertain significance Familial dysautonomia 2020-08-06 no assertion criteria provided clinical testing

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