ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3397C>T (p.Arg1133Cys)

gnomAD frequency: 0.00004  dbSNP: rs372499865
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666894 SCV000791263 uncertain significance Familial dysautonomia 2017-05-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001041168 SCV001204769 uncertain significance not provided 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1133 of the ELP1 protein (p.Arg1133Cys). This variant is present in population databases (rs372499865, gnomAD 0.006%). 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: 551755). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ELP1 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 RCV004026094 SCV003742013 uncertain significance not specified 2022-10-05 criteria provided, single submitter clinical testing The c.3397C>T (p.R1133C) alteration is located in exon 32 (coding exon 31) of the IKBKAP gene. This alteration results from a C to T substitution at nucleotide position 3397, causing the arginine (R) at amino acid position 1133 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000666894 SCV001452823 uncertain significance Familial dysautonomia 2020-09-16 no assertion criteria provided clinical testing

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