ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.967C>T (p.Pro323Ser)

gnomAD frequency: 0.00002  dbSNP: rs1292983568
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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 RCV001917858 SCV002169711 uncertain significance Aortic valve disease 2 2023-05-22 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SMAD6 protein function. ClinVar contains an entry for this variant (Variation ID: 1399783). This variant has not been reported in the literature in individuals affected with SMAD6-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.03%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 323 of the SMAD6 protein (p.Pro323Ser).
Ambry Genetics RCV002554329 SCV003599136 uncertain significance Inborn genetic diseases 2021-12-17 criteria provided, single submitter clinical testing The c.967C>T (p.P323S) alteration is located in exon 4 (coding exon 4) of the SMAD6 gene. This alteration results from a C to T substitution at nucleotide position 967, causing the proline (P) at amino acid position 323 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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