ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1990T>C (p.Cys664Arg)

gnomAD frequency: 0.00001  dbSNP: rs762636526
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001957363 SCV002205933 uncertain significance not provided 2021-12-07 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 664 of the ELP1 protein (p.Cys664Arg). This variant is present in population databases (rs762636526, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ELP1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Fulgent Genetics, Fulgent Genetics RCV002491936 SCV002788905 uncertain significance Medulloblastoma; Familial dysautonomia 2022-03-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004044264 SCV004078313 uncertain significance not specified 2023-06-21 criteria provided, single submitter clinical testing The c.1990T>C (p.C664R) alteration is located in exon 18 (coding exon 17) of the IKBKAP gene. This alteration results from a T to C substitution at nucleotide position 1990, causing the cysteine (C) at amino acid position 664 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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