ClinVar Miner

Submissions for variant NM_030974.4(SHARPIN):c.1097C>G (p.Pro366Arg)

gnomAD frequency: 0.00001  dbSNP: rs368001164
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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 RCV004316021 SCV003980985 uncertain significance not specified 2023-05-24 criteria provided, single submitter clinical testing The c.1097C>G (p.P366R) alteration is located in exon 8 (coding exon 8) of the SHARPIN gene. This alteration results from a C to G substitution at nucleotide position 1097, causing the proline (P) at amino acid position 366 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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