ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3194C>T (p.Ala1065Val)

dbSNP: rs972475636
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001296600 SCV001485570 uncertain significance not provided 2020-02-14 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 1065 of the IKBKAP protein (p.Ala1065Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: Tolerated; PolyPhen-2: Probably 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. RCV000791589 SCV001452828 uncertain significance Familial dysautonomia 2020-09-16 no assertion criteria provided clinical testing

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