ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.9799C>T (p.Pro3267Ser)

gnomAD frequency: 0.00029  dbSNP: rs182972491
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000529288 SCV000634916 likely benign Epileptic encephalopathy 2024-11-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000623446 SCV000742403 uncertain significance Inborn genetic diseases 2017-07-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005407707 SCV006072993 uncertain significance not specified 2025-04-18 criteria provided, single submitter clinical testing Variant summary: RYR3 c.9799C>T (p.Pro3267Ser) results in a non-conservative amino acid change in the encoded protein sequence. Four of four in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00031 in 248888 control chromosomes (gnomAD). This frequency is not significantly higher than estimated for a pathogenic variant in RYR3 causing Congenital Myopathy 20, allowing no conclusion about variant significance. To our knowledge, no occurrence of c.9799C>T in individuals affected with Congenital Myopathy 20 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 461990). Based on the evidence outlined above, the variant was classified as uncertain significance.
GenomeConnect, ClinGen RCV001175275 SCV001338876 not provided not provided no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 08-01-2017 by Lab or GTR ID 61756. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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