ClinVar Miner

Submissions for variant NM_053054.4(CATSPER1):c.2108C>T (p.Thr703Met)

gnomAD frequency: 0.00001  dbSNP: rs373771804
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000333186 SCV000373219 uncertain significance Male infertility 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004021518 SCV004920392 uncertain significance not specified 2023-12-17 criteria provided, single submitter clinical testing The c.2108C>T (p.T703M) alteration is located in exon 9 (coding exon 9) of the CATSPER1 gene. This alteration results from a C to T substitution at nucleotide position 2108, causing the threonine (T) at amino acid position 703 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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