ClinVar Miner

Submissions for variant NM_058246.4(DNAJB6):c.428C>T (p.Ala143Val)

dbSNP: rs757767434
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000351054 SCV000335457 uncertain significance not provided 2015-10-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001231363 SCV001403883 likely benign Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 2022-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004021135 SCV004859071 uncertain significance Inborn genetic diseases 2023-10-05 criteria provided, single submitter clinical testing The c.428C>T (p.A143V) alteration is located in exon 6 (coding exon 5) of the DNAJB6 gene. This alteration results from a C to T substitution at nucleotide position 428, causing the alanine (A) at amino acid position 143 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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