ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3454G>A (p.Gly1152Ser)

gnomAD frequency: 0.00007  dbSNP: rs771838754
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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 RCV001316191 SCV001506796 uncertain significance not provided 2018-07-24 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 1152 of the IKBKAP protein (p.Gly1152Ser). The glycine residue is weakly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs771838754, ExAC 0.04%). This variant has not been reported in the literature in individuals with IKBKAP-related disease. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 RCV002495083 SCV002776333 uncertain significance Medulloblastoma; Familial dysautonomia 2022-04-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV000802774 SCV001461185 uncertain significance Familial dysautonomia 2020-03-17 no assertion criteria provided clinical testing

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