ClinVar Miner

Submissions for variant NM_003126.4(SPTA1):c.4180del (p.Cys1394fs)

gnomAD frequency: 0.00001  dbSNP: rs779174182
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336015 SCV001529290 pathogenic Hereditary spherocytosis type 3 2018-03-21 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV003727985 SCV004536968 pathogenic not provided 2023-06-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys1394Alafs*25) in the SPTA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SPTA1 are known to be pathogenic (PMID: 9192783, 18815189, 31333484, 31723846, 32266426). This variant is present in population databases (rs779174182, gnomAD 0.009%). This premature translational stop signal has been observed in individual(s) with SPTA1-related conditions (PMID: 31333484, 31854503). ClinVar contains an entry for this variant (Variation ID: 1033567). For these reasons, this variant has been classified as Pathogenic.

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