ClinVar Miner

Submissions for variant NM_003098.3(SNTA1):c.719C>T (p.Ser240Leu)

gnomAD frequency: 0.00001  dbSNP: rs35168199
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001220408 SCV001392396 uncertain significance Long QT syndrome 2023-03-13 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 expected to disrupt SNTA1 protein function. ClinVar contains an entry for this variant (Variation ID: 949030). This variant has not been reported in the literature in individuals affected with SNTA1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 240 of the SNTA1 protein (p.Ser240Leu).
Fulgent Genetics, Fulgent Genetics RCV002480725 SCV002791805 uncertain significance Long QT syndrome 12 2021-09-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV004032391 SCV004954454 uncertain significance Cardiovascular phenotype 2023-10-10 criteria provided, single submitter clinical testing The c.719C>T (p.S240L) alteration is located in exon 4 (coding exon 4) of the SNTA1 gene. This alteration results from a C to T substitution at nucleotide position 719, causing the serine (S) at amino acid position 240 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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