ClinVar Miner

Submissions for variant NM_001286577.2(C2CD3):c.5404T>C (p.Tyr1802His)

gnomAD frequency: 0.00059  dbSNP: rs141407711
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414019 SCV000492183 uncertain significance not provided 2021-02-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously reported as a germline pathogenic or benign variant to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000414019 SCV003245391 likely benign not provided 2024-12-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002521429 SCV003556235 uncertain significance Inborn genetic diseases 2021-07-06 criteria provided, single submitter clinical testing The c.5404T>C (p.Y1802H) alteration is located in exon 28 (coding exon 28) of the C2CD3 gene. This alteration results from a T to C substitution at nucleotide position 5404, causing the tyrosine (Y) at amino acid position 1802 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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