ClinVar Miner

Submissions for variant NM_001142503.3(STARD8):c.739A>G (p.Ser247Gly)

gnomAD frequency: 0.00167  dbSNP: rs201848778
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000883542 SCV001026854 likely benign not provided 2018-08-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004028326 SCV003943399 uncertain significance not specified 2023-04-05 criteria provided, single submitter clinical testing The c.739A>G (p.S247G) alteration is located in exon 6 (coding exon 6) of the STARD8 gene. This alteration results from a A to G substitution at nucleotide position 739, causing the serine (S) at amino acid position 247 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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