ClinVar Miner

Submissions for variant NM_002855.5(NECTIN1):c.328C>T (p.Arg110Cys)

dbSNP: rs754922587
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330782 SCV001522583 uncertain significance Cleft lip/palate-ectodermal dysplasia syndrome 2020-01-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001863229 SCV002131894 uncertain significance not provided 2021-01-09 criteria provided, single submitter clinical testing 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. 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with NECTIN1-related conditions. This variant is present in population databases (rs754922587, ExAC 0.01%). This sequence change replaces arginine with cysteine at codon 110 of the NECTIN1 protein (p.Arg110Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine.

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