ClinVar Miner

Submissions for variant NM_015087.5(SPART):c.553_554del (p.Val185fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002632273 SCV003500878 pathogenic not provided 2022-02-18 criteria provided, single submitter clinical testing This variant is present in population databases (rs745516122, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Val185Ilefs*18) in the SPART gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SPART are known to be pathogenic (PMID: 18413476, 20437587, 20504295). This variant has not been reported in the literature in individuals affected with SPART-related conditions. For these reasons, this variant has been classified as Pathogenic.

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