ClinVar Miner

Submissions for variant NM_012338.4(TSPAN12):c.181C>T (p.Pro61Ser)

gnomAD frequency: 0.00058  dbSNP: rs145449060
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521119 SCV000620316 uncertain significance not provided 2017-08-24 criteria provided, single submitter clinical testing The P61S variant in the TSPAN12 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The P61S variant is observed in 14/10250 (0.137%) alleles from individuals of African background in the ExAC dataset (Lek et al., 2016). The P61S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret P61S as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000521119 SCV001045187 likely benign not provided 2024-12-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002525208 SCV003741136 uncertain significance Inborn genetic diseases 2021-12-15 criteria provided, single submitter clinical testing The c.181C>T (p.P61S) alteration is located in exon 4 (coding exon 3) of the TSPAN12 gene. This alteration results from a C to T substitution at nucleotide position 181, causing the proline (P) at amino acid position 61 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004754460 SCV005350495 uncertain significance TSPAN12-related disorder 2024-09-17 no assertion criteria provided clinical testing The TSPAN12 c.181C>T variant is predicted to result in the amino acid substitution p.Pro61Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.14% of alleles in individuals of African descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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