ClinVar Miner

Submissions for variant NM_018163.3(DNAJC17):c.248C>T (p.Ala83Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003068329 SCV003451264 likely benign not provided 2024-09-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004070329 SCV003878853 uncertain significance not specified 2023-02-16 criteria provided, single submitter clinical testing The c.248C>T (p.A83V) alteration is located in exon 4 (coding exon 4) of the DNAJC17 gene. This alteration results from a C to T substitution at nucleotide position 248, causing the alanine (A) at amino acid position 83 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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