ClinVar Miner

Submissions for variant NM_001128840.3(CACNA1D):c.5165G>C (p.Ser1722Thr)

gnomAD frequency: 0.00010  dbSNP: rs759409255
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825876 SCV000967361 uncertain significance not specified 2018-05-18 criteria provided, single submitter clinical testing The p.Ser1742Thr variant in CACNA1D has not been reported in individuals with he aring loss, but was identified in 0.02% (6/24024) of African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs7 59409255). Computational prediction tools and conservation analysis do not provi de strong support for or against an impact to the protein. In summary, the clini cal significance of the p.Ser1742Thr variant is uncertain. ACMG/AMP Criteria app lied: PM2_Supporting.
Labcorp Genetics (formerly Invitae), Labcorp RCV001858405 SCV002192902 likely benign not provided 2024-11-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004029191 SCV004915198 uncertain significance Inborn genetic diseases 2021-08-12 criteria provided, single submitter clinical testing The c.5225G>C (p.S1742T) alteration is located in exon 43 (coding exon 43) of the CACNA1D gene. This alteration results from a G to C substitution at nucleotide position 5225, causing the serine (S) at amino acid position 1742 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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