ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1925C>T (p.Thr642Met)

gnomAD frequency: 0.00004  dbSNP: rs377020122
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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 RCV000630684 SCV000751649 uncertain significance not provided 2022-07-22 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 642 of the ELP1 protein (p.Thr642Met). This variant is present in population databases (rs377020122, 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: 526187). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV004025385 SCV002755219 uncertain significance not specified 2022-02-11 criteria provided, single submitter clinical testing The c.1925C>T (p.T642M) alteration is located in exon 18 (coding exon 17) of the IKBKAP gene. This alteration results from a C to T substitution at nucleotide position 1925, causing the threonine (T) at amino acid position 642 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002499033 SCV002782518 uncertain significance Medulloblastoma; Familial dysautonomia 2022-03-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276233 SCV001462233 uncertain significance Familial dysautonomia 2020-01-24 no assertion criteria provided clinical testing

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