ClinVar Miner

Submissions for variant NM_030974.4(SHARPIN):c.743G>A (p.Cys248Tyr)

dbSNP: rs1357431865
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004121788 SCV003592173 uncertain significance not specified 2021-11-15 criteria provided, single submitter clinical testing The c.743G>A (p.C248Y) alteration is located in exon 5 (coding exon 5) of the SHARPIN gene. This alteration results from a G to A substitution at nucleotide position 743, causing the cysteine (C) at amino acid position 248 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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