ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.464C>G (p.Ala155Gly) (rs1554379882)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000507256 SCV000603021 uncertain significance not specified 2016-12-13 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000507256 SCV000919206 uncertain significance not specified 2018-01-10 criteria provided, single submitter clinical testing Variant summary: The CFTR c.464C>G (p.Ala155Gly) variant involves the alteration of a conserved nucleotide that is located in the ABC transporter type 1, transmembrane domain (InterPro). 4/5 in silico tools predict a damaging outcome for this variant. This variant is absent in 244896 control chromosomes. One clinical diagnostic laboratory classified this variant as one of uncertain significance. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.

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