ClinVar Miner

Submissions for variant NM_013296.5(GPSM2):c.731C>T (p.Ala244Val)

gnomAD frequency: 0.00001  dbSNP: rs750034509
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001837653 SCV002098216 uncertain significance not provided 2024-06-18 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD)
Ambry Genetics RCV003375368 SCV004083078 uncertain significance Inborn genetic diseases 2023-07-19 criteria provided, single submitter clinical testing The c.731C>T (p.A244V) alteration is located in exon 7 (coding exon 6) of the GPSM2 gene. This alteration results from a C to T substitution at nucleotide position 731, causing the alanine (A) at amino acid position 244 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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