ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.778G>A (p.Val260Met) (rs1390016549)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001002079 SCV001159921 uncertain significance not specified 2018-08-24 criteria provided, single submitter clinical testing The CFTR c.778G>A; p.Val260Met variant, to our knowledge, is not described in the medical literature or in gene-specific databases, and is only found on 1 allele in the Genome Aggregation Database. The valine at codon 260 is moderately conserved, but computational algorithms (PolyPhen-2: probably damaging, SIFT: tolerated) predict conflicting effects of this variant on protein structure/function. Due to the lack of clinical and functional data regarding this variant, its clinical significance cannot be determined with certainty.

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