ClinVar Miner

Submissions for variant NM_144643.4(SCLT1):c.656T>C (p.Val219Ala)

gnomAD frequency: 0.00019  dbSNP: rs199943075
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002138249 SCV002460168 benign not provided 2023-12-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004046598 SCV004944502 uncertain significance not specified 2022-12-19 criteria provided, single submitter clinical testing The c.656T>C (p.V219A) alteration is located in exon 9 (coding exon 9) of the SCLT1 gene. This alteration results from a T to C substitution at nucleotide position 656, causing the valine (V) at amino acid position 219 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004738544 SCV005351196 likely benign SCLT1-related disorder 2024-08-06 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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