ClinVar Miner

Submissions for variant NM_030916.3(NECTIN4):c.1387C>G (p.Pro463Ala)

gnomAD frequency: 0.00048  dbSNP: rs142579218
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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 RCV001334294 SCV001527097 uncertain significance Ectodermal dysplasia-syndactyly syndrome 1 2018-05-24 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 RCV001859321 SCV002113031 uncertain significance not provided 2022-10-28 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 463 of the NECTIN4 protein (p.Pro463Ala). This variant is present in population databases (rs142579218, gnomAD 0.1%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with NECTIN4-related conditions. ClinVar contains an entry for this variant (Variation ID: 1032240). 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 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.

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