ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.3712C>A (p.Leu1238Met) (rs757548779)

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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 RCV000757761 SCV000886106 uncertain significance not provided 2017-12-12 criteria provided, single submitter clinical testing The p.Leu1238Met variant (rs757548779) has not been reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the Genome Aggregation Database (gnomAD) with an overall population frequency of 0.003 percent (identified on 7 out of 277,078 chromosomes). The leucine at position 1238 is highly conserved up to zebrafish considering 8 species (Alamut v2.10) and computational analyses of the effects of the p.Leu1238Met variant on protein structure and function indicate a deleterious effect (SIFT: damaging, MutationTaster: disease causing, PolyPhen-2: probably damaging). Altogether, there is not enough evidence to classify the p.Leu1238Met variant with certainty.

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