ClinVar Miner

Submissions for variant NM_001001670.3(SPATA31D1):c.2141G>A (p.Arg714His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003430113 SCV004160072 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing SPATA31D1: BP4
Ambry Genetics RCV004364628 SCV004956281 uncertain significance not specified 2024-09-26 criteria provided, single submitter clinical testing The c.2141G>A (p.R714H) alteration is located in exon 4 (coding exon 4) of the SPATA31D1 gene. This alteration results from a G to A substitution at nucleotide position 2141, causing the arginine (R) at amino acid position 714 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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